Whole-genome Mutational Analysis for Tumor-informed Detection of Circulating Tumor DNA in Patients with Urothelial Carcinoma.

Iver Nordentoft¹, Sia Viborg Lindskrog², Karin Birkenkamp-Demtröder², Santiago Gonzalez³, Maja Kuzman³, Jurica Levatic³, Dunja Glavas³, Ryan Ptashkin³, James Smadbeck³, Danielle Afterman⁴, Tomer Lauterman⁴, Yarin Cohen⁴, Zohar Donenhirsh⁴, Iman Tavassoly³, Ury Alon⁴, Amanda Frydendahl², Mads Heilskov Rasmussen², Claus Lindbjerg Andersen², Philippe Lamy⁵, Michael Knudsen⁵, Paz Polak³, Asaf Zviran³, Boris Oklander⁴, Mads Agerbæk⁶, Jørgen Bjerggaard Jensen⁷, Lars Dyrskjøt⁸

¹Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark. Electronic address: iver.nordentoft@clin.au.dk.

²Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

³C2i Genomics, New York, NY, USA.

⁴C2i Genomics, Haifa, Israel.

⁵Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.

⁶Department of Oncology, Aarhus University Hospital, Aarhus, Denmark.

⁷Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; Department of Urology, Aarhus University Hospital, Aarhus, Denmark.

⁸Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark. Electronic address: lars@clin.au.dk.

PubMed DOI

Abstract

BACKGROUND AND OBJECTIVE: Circulating tumor DNA (ctDNA) can be used for sensitive detection of minimal residual disease (MRD). However, the probability of detecting ctDNA in settings of low tumor burden is limited by the number of mutations analyzed and the plasma volume available. We used a whole-genome sequencing (WGS) approach for ctDNA detection in patients with urothelial carcinoma. METHODS:…

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